Batch J A, Evans B A, Hughes I A, Patterson M N
Department of Paediatrics, University of Cambridge, Addenbrooke's Hospital.
J Med Genet. 1993 Mar;30(3):198-201. doi: 10.1136/jmg.30.3.198.
Hypospadias is a common urological abnormality and may occur in simple (glandular or penile) or severe forms (perineal). Perineal hypospadias often occurs in association with other genital abnormalities, such as bilateral cryptorchidism and micropenis, and may be the result of partial androgen insensitivity. We have investigated the androgen binding status and androgen receptor gene of boys from two unrelated families. The first pair of brothers had partial androgen insensitivity with perineal hypospadias, bilateral cryptorchidism, and micropenis, while the other boys had isolated perineal hypospadias. Qualitative androgen binding defects were shown in both sets of brothers and different point mutations of the androgen receptor gene were found in the two families. These findings suggest that the genital abnormalities in the affected brothers result from defects in the androgen receptor. Furthermore, severe familial hypospadias may be a previously unrecognised part of the phenotypic spectrum of the partial androgen insensitivity syndrome. This study provides valuable information for the genetic counselling of families affected by this X linked genital abnormality.
尿道下裂是一种常见的泌尿系统异常，可表现为单纯型（阴茎头型或阴茎型）或严重型（会阴型）。会阴型尿道下裂常与其他生殖器异常同时出现，如双侧隐睾和小阴茎，可能是部分雄激素不敏感的结果。我们研究了来自两个无亲缘关系家庭的男孩的雄激素结合状态和雄激素受体基因。第一对兄弟患有部分雄激素不敏感，伴有会阴型尿道下裂、双侧隐睾和小阴茎，而其他男孩仅有孤立的会阴型尿道下裂。两组兄弟均表现出定性的雄激素结合缺陷，且在两个家庭中发现了雄激素受体基因的不同点突变。这些发现表明，受影响兄弟的生殖器异常是由雄激素受体缺陷引起的。此外，严重的家族性尿道下裂可能是部分雄激素不敏感综合征表型谱中以前未被认识的一部分。本研究为受这种X连锁生殖器异常影响的家庭的遗传咨询提供了有价值的信息。
